Canonical Allele Identifier: CA353561623

Gene: MITF

Linked Data

• MyVariant Identifiers: chr3:g.70001016A>C (hg19) ; chr3:g.69951865A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69951865A>C , CM000665.2:g.69951865A>C	GRCh38
NC_000003.11:g.70001016A>C , CM000665.1:g.70001016A>C	GRCh37
NC_000003.10:g.70083706A>C	NCBI36
NG_011631.1:g.217384A>C , LRG_776:g.217384A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.868A>C	ENSP00000324443.5:p.Lys290Gln
ENST00000687384.1:c.865A>C	ENSP00000510225.1:p.Lys289Gln
ENST00000689390.1:n.1090A>C
ENST00000693031.1:c.841A>C	ENSP00000509845.1:p.Lys281Gln
ENST00000693549.1:c.868A>C	ENSP00000509358.1:p.Lys290Gln
ENST00000314589.10:c.868A>C	ENSP00000324443.5:p.Lys290Gln
ENST00000352241.9:c.934A>C MANE Select	ENSP00000295600.8:p.Lys312Gln
ENST00000394351.9:c.613A>C MANE Plus Clinical	ENSP00000377880.3:p.Lys205Gln
ENST00000448226.9:c.913A>C	ENSP00000391803.3:p.Lys305Gln
ENST00000642352.1:c.916A>C	ENSP00000494105.1:p.Lys306Gln
ENST00000314557.10:c.595A>C	ENSP00000324246.6:p.Lys199Gln
ENST00000314589.9:c.868A>C	ENSP00000324443.5:p.Lys290Gln
ENST00000328528.10:c.913A>C	ENSP00000327867.6:p.Lys305Gln
ENST00000352241.8:c.916A>C	ENSP00000295600.7:p.Lys306Gln
ENST00000394351.7:c.613A>C	ENSP00000377880.3:p.Lys205Gln
ENST00000448226.6:c.934A>C	ENSP00000391803.2:p.Lys312Gln
ENST00000451708.5:c.886A>C	ENSP00000398639.1:p.Lys296Gln
ENST00000472437.5:c.760A>C	ENSP00000418845.1:p.Lys254Gln
ENST00000478490.5:c.*260A>C	ENSP00000433487.1:n.*260A>C
ENST00000531774.1:c.427A>C	ENSP00000435909.1:p.Lys143Gln
NM_000248.3:c.613A>C , LRG_776t1:c.613A>C	NP_000239.1:p.Lys205Gln
NM_001184967.1:c.760A>C	NP_001171896.1:p.Lys254Gln
NM_006722.2:c.913A>C	NP_006713.1:p.Lys305Gln
NM_198158.2:c.595A>C	NP_937801.1:p.Lys199Gln
NM_198159.2:c.916A>C	NP_937802.1:p.Lys306Gln
NM_198177.2:c.868A>C	NP_937820.1:p.Lys290Gln
NM_198178.2:c.427A>C	NP_937821.2:p.Lys143Gln
XM_005264754.1:c.934A>C	XP_005264811.1:p.Lys312Gln
XM_005264755.2:c.886A>C	XP_005264812.1:p.Lys296Gln
XM_006713164.2:c.778A>C	XP_006713227.1:p.Lys260Gln
XM_011533722.1:c.931A>C	XP_011532024.1:p.Lys311Gln
XM_011533723.1:c.883A>C	XP_011532025.1:p.Lys295Gln
XM_011533724.1:c.778A>C	XP_011532026.1:p.Lys260Gln
XM_011533725.1:c.766A>C	XP_011532027.1:p.Lys256Gln
XM_011533726.1:c.748A>C	XP_011532028.1:p.Lys250Gln
NM_001354604.1:c.934A>C	NP_001341533.1:p.Lys312Gln
NM_001354605.1:c.931A>C	NP_001341534.1:p.Lys311Gln
NM_001354606.1:c.913A>C	NP_001341535.1:p.Lys305Gln
NM_001354607.1:c.865A>C	NP_001341536.1:p.Lys289Gln
NM_001354608.1:c.760A>C	NP_001341537.1:p.Lys254Gln
NM_001184967.2:c.760A>C	NP_001171896.1:p.Lys254Gln
NM_001354604.2:c.934A>C MANE Select	NP_001341533.1:p.Lys312Gln
NM_001354605.2:c.931A>C	NP_001341534.1:p.Lys311Gln
NM_001354606.2:c.913A>C	NP_001341535.1:p.Lys305Gln
NM_001354607.2:c.865A>C	NP_001341536.1:p.Lys289Gln
NM_001354608.2:c.760A>C	NP_001341537.1:p.Lys254Gln
NM_198158.3:c.595A>C	NP_937801.1:p.Lys199Gln
NM_198159.3:c.916A>C	NP_937802.1:p.Lys306Gln
NM_198177.3:c.868A>C	NP_937820.1:p.Lys290Gln
NM_198178.3:c.427A>C	NP_937821.2:p.Lys143Gln
NM_000248.4:c.613A>C MANE Plus Clinical	NP_000239.1:p.Lys205Gln
NM_006722.3:c.913A>C	NP_006713.1:p.Lys305Gln